Open AccessAnalysis of p16 gene deletion and point mutation in breast carcinoma
Author(s) -
Bruno Quesnel,
Pierre Fenaux,
N Philippe,
Joëlle Fournier,
Jacques Bonneterre,
Claude Preudhomme,
JeanPhilippe Peyrat
Publication year - 1995
Publication title -
british journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.833
H-Index - 236
eISSN - 1532-1827
pISSN - 0007-0920
DOI - 10.1038/bjc.1995.337
Subject(s) - point mutation , missense mutation , single strand conformation polymorphism , germline mutation , mutation , gene , biology , gene mutation , genetics , breast carcinoma , cancer research , mutation testing , breast cancer , microbiology and biotechnology , cancer
We looked for p16 gene deletion by Southern analysis and p16 gene point mutation by single-stranded conformation polymorphism (SSCP) analysis and direct sequencing of DNA from fresh tumour samples of 35 and 33 breast carcinomas respectively. No homozygous p16 gene deletion was found in any case. A missense point mutation of the p16 gene was found in only one patient. This point mutation was absent from the patient's lymphocytes, ruling out a polymorphism or a germline mutation. These findings suggest that p16 gene alterations are rarely observed in breast carcinoma.